Sterol C14 reductase deficiency

Synonym(s)
- Hydrops-ectopic calcification-moth-eaten (HEM) dysplasia
Type

Disease
External link(s)
- IEMbase
Gene
- LBR / Lamin B Receptor
  1q42.12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Lamin B receptor
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis
Child entries